家族性高胆固醇血症诊断标准在男性和女性血脂异常患者中的预后价值

Z. F. Kim, A. Galyavich, D. I. Sadykova, L. M. Nurieva
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摘要

目的分析荷兰血脂临床网络(DLCN)和西蒙-布鲁姆登记(SBR)筛查标准对男性和女性血脂异常患者家族性高胆固醇血症(FH)的预后价值。研究纳入了 1233 名血脂异常患者。采用新一代测序技术(NGS)对 421 名患者的生物材料样本进行了研究,以确定 FH 相关基因。统计分析使用 StatTech v 程序进行。3.1.6(OOO Stattekh,俄罗斯)进行统计分析。预测男性 FH 的最重要因素是低密度脂蛋白胆固醇(LDL-C)水平(1.77 倍)、阳性冠状动脉疾病(CAD)家族史(6.26 倍)、多血管冠状动脉疾病(4.05 倍);绝经前女性--低密度脂蛋白胆固醇(1.77 倍/1 毫摩尔/升)和/或冠心病家族史(3.31 倍),绝经期女性--总胆固醇水平(1.79 倍/1 毫摩尔/升)、冠心病(6.52 倍)和/或中风家族史(6.04 倍)、黄疽(4.24 倍)。急性心肌梗死和/或冠状动脉支架置入术、老年弧、颅内外动脉粥样硬化并不证明对FH诊断有预后意义。结论:潜在 FH 的诊断标准因患者人群而异。其诊断意义取决于性别和女性的生育状况。
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Prognostic value of diagnostic criteria for familial hypercholesterolemia in men and women with dyslipidemia
Aim. To analyze the prognostic value of the Dutch Lipid Clinic Network (DLCN) and Simon Broome Register (SBR) screening criteria for familial hypercholesterolemia (FH) in men and women with dyslipidemia.Material and methods. The study included 1233 patients with dyslipidemia.Biomaterial samples from 421 patients were studied using Next Generation Sequencing (NGS) to identify FH-associated genes. Statistical analysis was carried out using the StatTech v program. 3.1.6 (OOO Stattekh, Russia).Results. The most significant factors for predicting the FH in men are the level of low-density lipoprotein cholesterol (LDL-C) (1,77 times), positive family history for coronary artery disease (CAD) (6,26 times), multivessel coronary artery disease (4,05 times); in women before menopause — LDL-C (1,77 times per 1 mmol/l) and/or family history of coronary artery disease (3,31 times), in menopausal women — total cholesterol level (1,79 times per 1 mmol/l), coronary artery disease (6,52 times) and/or family history of stroke (6,04 times), xanthomas (4,24 times). Acute myocardial infarction and/or coronary stenting, arcus senilis, extracranial artery atherosclerosis did not prove to be prognostically significant for FH diagnosis.Conclusion. Diagnostic criteria for potential FH vary among patient populations. Its diagnostic significance depends on sex, and in women, reproductive status.
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来源期刊
Russian Journal of Cardiology
Russian Journal of Cardiology Medicine-Cardiology and Cardiovascular Medicine
CiteScore
2.20
自引率
0.00%
发文量
185
审稿时长
1 months
期刊介绍: Russian Journal of Cardiology has been issued since 1996. The language of this publication is Russian, with tables of contents and abstracts of all articles presented in English as well. Editor-in-Chief: Prof. Eugene V.Shlyakhto, President of the Russian Society of Cardiology. The aim of the journal is both scientific and practical, also with referring to organizing matters of the Society. The best of all cardiologic research in Russia is submitted to the Journal. Moreover, it contains useful tips and clinical examples for practicing cardiologists. Journal is peer-reviewed, with multi-stage editing. The editorial board is presented by the leading cardiologists from different cities of Russia.
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